Genetics of Alzheimer's disease: recent advances.
Genetics of Alzheimer's disease: recent advances.
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DOI：
10.1186/gm34
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发表时间：
2009-03-27
期刊：
影响因子：
12.3
通讯作者：
Avramopoulos D
中科院分区：
文献类型：
--
作者：
Avramopoulos D
阿尔茨海默病是一种进行性神经退行性疾病，在老年人群中患病率较高。它是痴呆最常见的病因，85岁以后患病风险达到50%，随着人口老龄化，它是21世纪最大的医疗保健挑战之一。遗传变异是导致该疾病风险的一个重要因素，据估计遗传率约为70%。20世纪90年代的阿尔茨海默病遗传学研究成功地确定了三个导致大多数常染色体显性遗传早发性疾病病例的基因，以及一个与更常见的晚发性疾病有关的基因，后者呈现复杂的遗传模式。尽管仍有显著的遗传因素对患病风险有影响，但从那以后基因的确定一直很困难，这与大多数其他复杂疾病的情况类似。在过去的十年中，人们做出了重大努力，对阿尔茨海默病的多项基因关联研究进行了系统评估，同时第一批全基因组关联研究目前也有了有希望的结果报道。随着通过新的样本收集和合作努力使样本量增加，以及新技术使检验其他假设成为可能，预计很快将会确定并确认与该疾病有关的新基因。20世纪90年代的基因发现让我们对阿尔茨海默病的发病机制有了很多了解，提供了许多目前处于不同测试阶段以供未来临床使用的治疗靶点。随着新基因被发现以及导致疾病的生物学途径得到进一步探索，预防和成功的个性化治疗的可能性变得切实可行，为数百万阿尔茨海默病患者及其护理人员带来了希望。
Alzheimer's disease is a progressive neurodegenerative disorder with high prevalence in old age. It is the most common cause of dementia, with a risk reaching 50% after the age of 85 years, and with the increasing age of the population it is one of the biggest healthcare challenges of the 21st century. Genetic variation is an important contributor to the risk for this disease, underlying an estimated heritability of about 70%. Alzheimer's genetics research in the 1990s was successful in identifying three genes accounting for most cases of early-onset disease with autosomal dominant inheritance, and one gene involved in the more common late-onset disease, which shows complex inheritance patterns. Despite the presence of significant remaining genetic contribution to the risk, the identification of genes since then has been elusive, reminiscent of most other complex disorders. In the past decade there have been significant efforts towards a systematic evaluation of the multiple genetic association studies for Alzheimer's disease, while the first genome-wide association studies are now being reported with promising results. As sample sizes grow through new collections and collaborative efforts, and as new technologies make it possible to test alternative hypotheses, it is expected that new genes involved in the disease will soon be identified and confirmed. The gene discoveries of the 1990s have taught us a lot about Alzheimer's disease pathogenesis, providing many therapeutic targets that are currently at various stages of testing for future clinical use. As new genes become known and the biological pathways leading to disease are further explored, the possibility of prevention and successful personalized treatment is becoming tangible, providing hope for the millions of patients with Alzheimer's disease and their caregivers.
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影响因子：
2.7
作者：
Abraham R;Moskvina V;Sims R;Hollingworth P;Morgan A;Georgieva L;Dowzell K;Cichon S;Hillmer AM;O'Donovan MC;Williams J;Owen MJ;Kirov G
通讯作者：
Kirov G
DOI：
10.1073/pnas.96.7.3922
发表时间：
1999-03-30
影响因子：
11.1
作者：
Lammich, S;Kojro, E;Fahrenholz, F
通讯作者：
Fahrenholz, F
影响因子：
3.1
作者：
Lahiri, DK
通讯作者：
Lahiri, DK
影响因子：
64.8
作者：
Gibbs, RA;Belmont, JW;Tanaka, T
通讯作者：
Tanaka, T
DOI：
10.1093/gerona/52a.2.m117
发表时间：
1997-03-01
影响因子：
5.1
作者：
Gatz, M;Pedersen, NL;Ahlbom, A
通讯作者：
Ahlbom, A